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Am J Med Genet A. 2005 Dec 15;139(3):216-20.

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

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  • 1Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.


We report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM#239850). He also has hypercholesterolemia, type II diabetes, recurrent bony fractures, and non-alcoholic steatohepatitis, not previously described in either condition. The 1p36 deletion was detected in a screen of all chromosome subtelomeres using multiplex ligation-dependent probe amplification and was verified using FISH with a region-specific BAC clone. We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions.

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